Melbourne genomics professor wins Women in Leadership award

Associate Professor Clara Gaff has received this year’s Most Valuable Women in Leadership title. Her award is an initiative from the BioMelbourne Network to celebrate and highlight the achievements of women in leadership. Clara has been awarded for displaying pivotal leadership in delivering a project, partnership or collaborative initiative in the past five years.

Clara has certainly nailed that brief.

She’s the Executive Director of Melbourne Genomics Health Alliance, which has sped up the transition of genomics from research to patient care since it was established in 2013. Not bad for a collaboration that has only been up and running for just over five years.

Melbourne Genomics – through which more than 500 doctors, genetic counsellors, health service researchers and scientists work together across 16 disease areas – is funded over a four-year period (2016-2019) with $25 million from the Victorian Government and contributions from 10 Alliance members: The Royal Melbourne Hospital; The Royal Children’s Hospital; The University of Melbourne; The Walter and Eliza Hall Institute; the Murdoch Children’s Research Institute, the CSIRO; the Australian Genome Research Facility; the Peter MacCallum Cancer Centre; Austin Health and Monash Health.

The Alliance members' work identifying gene changes that may enhance health treatment for 16 diseases cannot be over-estimated. Genomic testing impacts diagnosis, treatment and access to clinical trials for conditions including neurological diseases, genetic kidney disease and hereditary cancer, as well as investigating the potential of DNA sequencing to prevent and control superbug outbreaks.

Even more astonishing is that the technology used to 'read' DNA was in its infancy just two decades back.

"In the early 1990s," Clara says, "less than a handful of genes were tested clinically. I could never have imagined that now we’d routinely be doing a single test where more than 3000 of those genes are known to cause disease. It’s an exciting time. Since starting Melbourne Genomics five years ago, we’ve enabled 3720 people with one of 16 health conditions to receive genomic testing."

Test results benefit not only those individuals, but can be used to guide policy decisions about funding.

"We’re providing this evidence to the Victorian Government to inform decision making," says Clara. "Our work has established Victoria as a leader nationally and internationally in the challenging process of bringing genomic medicine to reality, and international experts are now coming to Victoria to learn how we’re doing this."

While Clara emphasises she’s extremely grateful to the BioMelbourne Network for creating the Women in Leadership Awards, she adds it’s very much a team win. "I’m honoured to be recognised in this way and also see it as recognition for everyone involved in the Alliance. It’s all of our member organisations who have made the Melbourne Genomics program such a success; their expertise, wise advice, hard work, collegiality and ability to bring people together. The whole Alliance can take pride in knowing that this work is valued and making a difference."

Genomics is a field that’s rapidly evolving. "Our greatest challenge is to ensure patients benefit from the enormous potential of genomics: the ultimate goal is improving people’s health through collaboration,” Clara emphasises. “Collaboration across disciplines and organisations is central to the Alliance’s vision to bring genomics in to everyday healthcare – providing accelerated, practical pathways."

Melbourne Genomics' life-saving treatment: Ariana

One standout Melbourne Genomics project has shown how rapid care for critically ill babies can be improved via a simple blood sample to extract DNA. The insight has been so successful that it has been rolled out by Australian Genomics as a national initiative.

The project has had life-saving results.

Take the case of Ariana, a healthy baby until the age of eight months when she began experiencing seizures, would suddenly stop breathing and started losing developmental skills. Admitted to intensive care, she was resuscitated many times and doctors couldn’t find the cause of her illness.

Genomic sequencing through the Melbourne Genomics Health Alliance quickly identified the mistake in a gene that made Ariana’s cells unable to transport riboflavin (vitamin B2) around her body. Ariana is now back home living a normal life thanks to a simple, regular dose of riboflavin. Genomic sequencing delivered a diagnosis that otherwise may never have been made, and it saved Ariana’s life.

Melbourne Genomics' life-saving treatment: Louis

At just five months old, Louis was diagnosed with a terminal condition, Leigh disease, a rare (1 in 40,000) genetic condition leading to developmental delay, low muscle tone, seizures and resulting in a progressive decline in neurological function.

Changes in a number of different genes can cause Leigh disease, but there’s no cure and for most forms of the disease, there’s no specific treatment. Louis’ parents were devastated to learn that their boy was unlikely to survive more than a few years.

In June 2014, Louis' family were contacted about the possibility of being involved in a Melbourne Genomics study that hoped to find the genetic basis of Louis’ condition. Genomic sequencing of Louis’ DNA led to the likely cause of Louis’ illness – and confirmed his condition was treatable. Doctors began medication immediately after the diagnosis. Although this is a very new area of study, those involved in Louis' care are confident his condition is no longer terminal. Careful and consistent medication should ensure he doesn’t experience any further brain damage.

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The Women in Leadership awards are granted in three categories, acknowledging women in different types of leadership roles and at different stages of their careers. The category Clara has won is awarded to an inspiring leader who has played a pivotal leadership role in delivering a project and has delivered meaningful outcomes and positive change in the health industry.